ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.685C>T (p.His229Tyr)

gnomAD frequency: 0.00001  dbSNP: rs142737128
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348403 SCV001542704 uncertain significance Fanconi anemia complementation group E 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 229 of the FANCE protein (p.His229Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs142737128, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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